A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

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Bibliographic Details
Published inClinical Pediatric Endocrinology Vol. 31; no. 2; pp. 98 - 100
Main Authors Tajima, Toshihiro, Oguma, Makiko
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society for Pediatric Endocrinology 2022
Subjects
central hypothyroidism
hypogonadotropic hypogonadism
IGSF1
Mutation-in-Brief
novel variant
novel variant
hypogonadotropic hypogonadism
central hypothyroidism
IGSF1
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Bibliography:ObjectType-Article-1
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ObjectType-Feature-2
content type line 23
ISSN:0918-5739
1347-7358
DOI:10.1297/cpe.2021-0071